HGVS | Genome Assembly |
---|---|
NC_000004.12:g.6695979A>C , CM000666.2:g.6695979A>C | GRCh38 |
NC_000004.11:g.6697706A>C , CM000666.1:g.6697706A>C | GRCh37 |
NC_000004.10:g.6748607A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296370.4:c.139-914A>C MANE Select | ENSP00000296370.3:n.139-914A>C | |
ENST00000296370.3:c.139-914A>C | ENSP00000296370.3:n.139-914A>C | |
ENST00000513778.1:n.36-914A>C | ||
NM_005980.2:c.139-914A>C | NP_005971.1:n.139-914A>C | |
NM_005980.3:c.139-914A>C MANE Select | NP_005971.1:n.139-914A>C |